ClinVar Miner

List of variants in gene combination APOB, LOC106560211 reported as likely benign for hypobetalipoproteinemia

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.36G>T (p.Leu12=) rs1431567486 0.00011
NM_000384.3(APOB):c.192C>T (p.Val64=) rs775528000 0.00003
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.133C>G (p.Arg45Gly) rs779776455 0.00002
NM_000384.3(APOB):c.231C>T (p.Asn77=) rs1004389290 0.00002
NM_000384.3(APOB):c.107G>C (p.Ser36Thr) rs200464882 0.00001
NM_000384.3(APOB):c.108C>T (p.Ser36=) rs746086204 0.00001
NM_000384.3(APOB):c.141G>A (p.Lys47=) rs966624272 0.00001
NM_000384.3(APOB):c.152A>G (p.Lys51Arg) rs764776276 0.00001
NM_000384.3(APOB):c.180T>C (p.Ser60=) rs1225537247 0.00001
NM_000384.3(APOB):c.81C>G (p.Ala27=) rs768732556 0.00001
NM_000384.3(APOB):c.82+12G>C rs757119717 0.00001
NM_000384.3(APOB):c.83-10T>C rs762185387 0.00001
NM_000384.3(APOB):c.83-7C>T rs924078369 0.00001
NM_000384.3(APOB):c.109C>T (p.Leu37=)
NM_000384.3(APOB):c.121+18G>T rs1664183753
NM_000384.3(APOB):c.129G>A (p.Ala43=) rs12720850
NM_000384.3(APOB):c.134G>A (p.Arg45Gln)
NM_000384.3(APOB):c.144C>T (p.His48=)
NM_000384.3(APOB):c.147C>A (p.Leu49=)
NM_000384.3(APOB):c.153G>A (p.Lys51=)
NM_000384.3(APOB):c.159A>G (p.Thr53=) rs1188239237
NM_000384.3(APOB):c.186T>C (p.Ser62=)
NM_000384.3(APOB):c.18C>T (p.Pro6=) rs935727658
NM_000384.3(APOB):c.18_26del (p.9LAL[1])
NM_000384.3(APOB):c.204T>C (p.Ala68=)
NM_000384.3(APOB):c.21G>A (p.Ala7=)
NM_000384.3(APOB):c.225G>A (p.Arg75=)
NM_000384.3(APOB):c.237+7A>T rs2103388840
NM_000384.3(APOB):c.238-19T>C
NM_000384.3(APOB):c.238-19del
NM_000384.3(APOB):c.30G>C (p.Ala10=)
NM_000384.3(APOB):c.45T>C (p.Pro15=)
NM_000384.3(APOB):c.49C>T (p.Leu17=)
NM_000384.3(APOB):c.64C>T (p.Leu22=)
NM_000384.3(APOB):c.69G>A (p.Ala23=)
NM_000384.3(APOB):c.71G>A (p.Gly24Asp)
NM_000384.3(APOB):c.82+10C>T rs2103390378
NM_000384.3(APOB):c.82+16C>T
NM_000384.3(APOB):c.82+8C>A rs932043593
NM_000384.3(APOB):c.82+8C>G rs932043593
NM_000384.3(APOB):c.83-16T>C
NM_000384.3(APOB):c.83-18C>A
NM_000384.3(APOB):c.96G>A (p.Leu32=)

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